DiseaseID 1212
McCune-Albright综合征
disease
MSH2017_2016_08_12:A disease of bone marked by thinning of the cortex by fibrous tissue containing bony spicules, producing pain, disability, and gradually increasing deformity. Only one bone may be involved (FIBROUS DYS
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Disease: 1Herb: 4Symptom: 6Target: 20Links: 34
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 1212
- Core Entity Id
- 1368
- Source Entity Count
- 1
- Preferred Name
- Mccune-Albright Syndrome
- Name Cn
- McCune-Albright综合征
- Name Pinyin
- Mccune-albright Zong He Zheng
- Name En
- McCune-Albright syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Congenital Abnormality
- Disgenet Type
- disease
- Mesh Class
- Musculoskeletal Diseases
- Do Class
- genetic disease
- Hpo Class
- Abnormality of the skeletal system
- Mesh Class Name
- Musculoskeletal Diseases
- Hpo Class Name
- Abnormality of the skeletal system
- Do Class Name
- genetic disease
- Disease Definition
- MSH2017_2016_08_12:A disease of bone marked by thinning of the cortex by fibrous tissue containing bony spicules, producing pain, disability, and gradually increasing deformity. Only one bone may be involved (FIBROUS DYSPLASIA, MONOSTOTIC) or several (FIBROUS DYSPLASIA, POLYOSTOTIC).|HPO2016_07_04:Tumor-like growths that consist of replacement of the medullary bone with fibrous tissue, causing the expansion and weakening of the areas of bone involved. Especially when involving the skull or facial bones, the lesions can cause externally visible deformities. The skull is often, but not necessarily, affected, and any other bone or bones may be involved. Fibrous dysplasia can either effect isolated bones (Monostotic fibrous dysplasia) or also generalized all bones of the body (Polyostotic fibrous dysplasia). [HPO:sdoelken]
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Mccune-Albright Syndrome
Role
preferred
Name
Osteitis Fibrosa Disseminata
Role
preferred
Name
Fibrocartilaginous Dysplasia of Bone
Role
preferred
Name
Fibrocystic Dysplasia of Bone
Role
preferred
Name
Polyostotic Fibrous Dysplasia
Role
preferred
Name
ALBRIGHT SYNDROME
Role
alias
Name
Fibrous Dysplasia of Bone
Role
alias
Name
Fibrous Dysplasia of The Bones
Role
alias
Name
Fibrous Dysplasia, Polyostotic
Role
alias
Name
Gonadotropin-independent Female-limited Sexual Precocity
Role
alias
Name
MAS
Role
alias
Name
Mccune Albright Syndrome
Role
alias
Name
PFD
Role
alias
Name
POFD
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0010734HP:0010735
Herb
HBDIS001076HBDIS001078HBDIS005406HBDIS027678HBDIS027679
Me Sh
D005357D005359
Omim
174800
Umls
C0016063C0016065C0242292
Icd10
Q78.1
Sym Map
SMDE01662SMDE11672
Do Class
DOID:630
Dis Ge Net
C0016063C0016065C0242292C4704884C4704885
Orphanet
562
Umls Sty
T019T047
Hpo Class
HP:0000924
Me Sh Class
C05
Etcm Disease
Mccune-Albright Syndrome
Tcmbank Disease
1664119151210732859528979312698684
Itcmdb Generated
ITX-DISEASE-029395FDBB97ITX-DISEASE-26786BB12A5EITX-DISEASE-7EF5109EBA28ITX-DISEASE-AF77436C9769
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2v2
Suppress
0
Page Title
Disease Mccune-Albright Syndrome Details page
Do Class Name
genetic disease
Disease Type
disease
Hpo Class Name
Abnormality of the skeletal system
Do Disease Class
genetic disease
Hpo Disease Class
Abnormality of the skeletal system
Umls Disease Type
Congenital AbnormalityDisease or Syndrome
Basic Information
Disease Name
Mccune-Albright Syndrome
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Endocrine diseases;Reproductive diseases;Skin diseases
Disease Definition
MSH2017_2016_08_12:A disease of bone marked by thinning of the cortex by fibrous tissue containing bony spicules, producing pain, disability, and gradually increasing deformity. Only one bone may be involved (FIBROUS DYSPLASIA, MONOSTOTIC) or several (FIBROUS DYSPLASIA, POLYOSTOTIC).|HPO2016_07_04:Tumor-like growths that consist of replacement of the medullary bone with fibrous tissue, causing the expansion and weakening of the areas of bone involved. Especially when involving the skull or facial bones, the lesions can cause externally visible deformities. The skull is often, but not necessarily, affected, and any other bone or bones may be involved. Fibrous dysplasia can either effect isolated bones (Monostotic fibrous dysplasia) or also generalized all bones of the body (Polyostotic fibrous dysplasia). [HPO:sdoelken]McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), café-au-lait skin spots, and precocious puberty (PP).
Me Sh Disease Class
Musculoskeletal Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Musculoskeletal Diseases
Umls Semantic Type Name
Congenital AbnormalityDisease or Syndrome